Variants in ASB10 are associated with open-angle glaucoma

The molecular events responsible for obstruction of aqueous humor outflow and the loss of retinal ganglion cells in glaucoma, one of the main causes of blindness worldwide, remain poorly understood. We identified a synonymous variant, c.765C>T (Thr255Thr), in ankyrin repeats and suppressor of cyt...

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Veröffentlicht in:	Human molecular genetics 2012-03, Vol.21 (6), p.1336-1349
Hauptverfasser:	PASUTTO, Francesca, KELLER, Kate E, EDMUNDS, Beth, KRAMER, Patricia L, GRAMER, Eugen, REIS, Andre, ACOTT, Ted S, WIRTZ, Mary K, WEISSCHUH, Nicole, STICHT, Heinrich, SAMPLES, John R, YANG, Yong-Feng, ZENKEL, Matthias, SCHLÖTZER-SCHREHARDT, Ursula, MARDIN, Christian Y, FREZZOTTI, Paolo
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Aged Aged, 80 and over Alternative Splicing Amino Acid Sequence Ankyrin Repeat Base Sequence Biological and medical sciences Case-Control Studies Cells, Cultured Ciliary Body - cytology Ciliary Body - metabolism Female Fundamental and applied biological sciences. Psychology Genetics of eukaryotes. Biological and molecular evolution Glaucoma and intraocular pressure Glaucoma, Open-Angle - genetics Glaucoma, Open-Angle - pathology Humans Male Medical sciences Middle Aged Molecular and cellular biology Molecular Sequence Data Mutation, Missense - genetics Ophthalmology Organ Culture Techniques Pedigree Prognosis Real-Time Polymerase Chain Reaction Retinal Ganglion Cells - cytology Retinal Ganglion Cells - metabolism RNA, Messenger - genetics Suppressor of Cytokine Signaling Proteins - chemistry Suppressor of Cytokine Signaling Proteins - genetics Suppressor of Cytokine Signaling Proteins - metabolism Trabecular Meshwork - metabolism Trabecular Meshwork - pathology Young Adult
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